Ataxia and cerebellar anomalies - narrow panel
Gene: ATXN10EnsemblGeneIds (GRCh38): ENSG00000130638
EnsemblGeneIds (GRCh37): ENSG00000130638
OMIM: 611150, Gene2Phenotype
ATXN10 is in 17 panels
1 review
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 5 Nov 2021, 1:45 p.m. | Last Modified: 5 Nov 2021, 1:45 p.m.
Panel Version: 2.248
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Phenotypes
-
- Spinocerebellar ataxia 10, OMIM:603516
- Tags
- OMIM
- 611150
- Clinvar variants
- Variants in ATXN10
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Hereditary neuropathy
- Adult onset neurodegenerative disorder
- Early onset dementia (encompassing fronto-temporal dementia and prion disease)
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Early onset dystonia
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary spastic paraplegia
- Adult onset hereditary spastic paraplegia
- Hereditary ataxia
- Skeletal dysplasia
- Thoracic dystrophies
- Primary ciliary disorders
- Childhood onset hereditary spastic paraplegia
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag nucleotide-repeat-expansion tag was added to gene: ATXN10. Tag currently-ngs-unreportable tag was added to gene: ATXN10.
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: ATXN10 was changed from Unknown to Other
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ATXN10 were changed from Spinocerebellarataxia10,603516 to Spinocerebellar ataxia 10, OMIM:603516
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Comment on list classification
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)gene: ATXN10 was added gene: ATXN10 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: ATXN10 was set to Unknown Phenotypes for gene: ATXN10 were set to Spinocerebellarataxia10,603516 Mode of pathogenicity for gene: ATXN10 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments